Canonical Allele Identifier: CA381702513

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71146856C>T (hg19) ; chr11:g.71435810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435810C>T , CM000673.2:g.71435810C>T	GRCh38
NC_000011.9:g.71146856C>T , CM000673.1:g.71146856C>T	GRCh37
NC_000011.8:g.70824504C>T	NCBI36
NG_012655.2:g.17622G>A , LRG_340:g.17622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.993G>A	ENSP00000435707.3:p.Gln331=
ENST00000526780.6:c.993G>A	ENSP00000435668.2:p.Gln331=
ENST00000527316.6:c.819G>A	ENSP00000435047.2:p.Gln273=
ENST00000682708.1:c.1044G>A	ENSP00000506866.1:p.Gln348=
ENST00000683287.1:c.1029G>A	ENSP00000507607.1:p.Gln343=
ENST00000683714.1:c.1001G>A	ENSP00000508207.1:p.Ser334Asn
ENST00000684396.1:n.1033G>A
ENST00000685320.1:c.408G>A	ENSP00000509319.1:p.Gln136=
ENST00000690257.1:c.897G>A	ENSP00000510750.1:p.Gln299=
ENST00000355527.8:c.993G>A MANE Select	ENSP00000347717.4:p.Gln331=
ENST00000355527.7:c.993G>A	ENSP00000347717.3:p.Gln331=
ENST00000407721.6:c.993G>A	ENSP00000384739.2:p.Gln331=
ENST00000525137.1:c.494G>A	ENSP00000435956.1:p.Ser165Asn
ENST00000533800.5:c.243G>A	ENSP00000435011.1:p.Gln81=
ENST00000534795.5:c.319+2002G>A
NM_001163817.1:c.993G>A	NP_001157289.1:p.Gln331=
NM_001360.2:c.993G>A , LRG_340t1:c.993G>A	NP_001351.2:p.Gln331=
XM_011544777.1:c.1127G>A	XP_011543079.1:p.Ser376Asn
XM_011544777.2:c.1127G>A	XP_011543079.1:p.Ser376Asn
NM_001163817.2:c.993G>A	NP_001157289.1:p.Gln331=
NM_001360.3:c.993G>A MANE Select	NP_001351.2:p.Gln331=